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Genetic Diseases, X-Linked
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Definition
: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
See Also
Chromosomes, Human, X
;
Genes, X-Linked
;
Sex Chromosome Aberrations
;
Sex Chromosome Disorders
Examples
Aicardi Syndrome
;
Androgen-Insensitivity Syndrome
;
Barth Syndrome
;
Bulbo-Spinal Atrophy, X-Linked
;
Choroideremia
;
Dent Disease
;
Dyskeratosis Congenita
;
Ectodermal Dysplasia 1, Anhidrotic
;
Fabry Disease
;
Focal Dermal Hypoplasia
;
Glycogen Storage Disease Type IIb
;
Glycogen Storage Disease Type VIII
;
Granulomatous Disease, Chronic
;
Hemophilia B
;
Hyper-IgM Immunodeficiency Syndrome, Type 1
;
Hypophosphatemic Rickets, X-Linked Dominant
;
Ichthyosis, X-Linked
;
Isolated Noncompaction of the Ventricular Myocardium
;
Mental Retardation, X-Linked
;
Muscular Dystrophy, Duchenne
;
Muscular Dystrophy, Emery-Dreifuss
;
Oculocerebrorenal Syndrome
;
Ornithine Carbamoyltransferase Deficiency Disease
;
Pelizaeus-Merzbacher Disease
;
Wiskott-Aldrich Syndrome
;
X-Linked Combined Immunodeficiency Diseases
Other names
X-
Linked Genetic Disease; X Linked Genetic Diseases; Genetic Diseases, X Linked; Genetic Diseases, X Chromosome Linked; Genetic Disease, X-
Linked; Diseases, X-
Linked Genetic; Disease, X-
Linked Genetic; Genetic Diseases, X-
Chromosome Linked; X-
Linked Genetic Diseases
Substance
CAS Registry & name
Categories
Source
Panhypopituitarism X-
linked
0
*Hypopituitarism
*Genetic Diseases, X-Linked.
Chondrodysplasia punctata 2, X-
linked dominant
0
*Chondrodysplasia Punctata
*Genetic Diseases, X-Linked.
NEMO mutation with immunodeficiency
0
*Ectodermal Dysplasia
*Immunologic Deficiency Syndromes
*Genetic Diseases, X-Linked.
Hypertrichosis congenital generalized X-
linked
0
*Hypertrichosis/congenital
*Genetic Diseases, X-Linked.
Reticuloendotheliosis, X-
linked
0
*Severe Combined Immunodeficiency
*Genetic Diseases, X-Linked.
Nasodigitoacoustic syndrome
0
*Deafness/congenital
*Lower Extremity Deformities, Congenital
*Genetic Diseases, X-Linked.
Nance-
Horan syndrome
0
*Cataract/congenital
*Tooth Abnormalities
*Genetic Diseases, X-Linked.
Hodgkin disease, X-
linked pseudoautosomal
0
*Hodgkin Disease
*Genetic Diseases, X-Linked.
Dent disease 1
0
*Genetic Diseases, X-Linked
*Nephrolithiasis.
Achromatopsia incomplete, X-
linked
0
*Color Vision Defects
*Genetic Diseases, X-Linked.
Heterotaxy, visceral, X-
linked
0
*Dextrocardia
*Genetic Diseases, X-Linked
*Heterotaxy Syndrome.
Agammaglobulinemia, X-
linked, type 2
0
*Agammaglobulinemia
*Genetic Diseases, X-Linked.
Fetal akinesia syndrome, X-
linked
0
*Fetal Growth Retardation
*Pterygium
*Limb Deformities, Congenital
*Genetic Diseases, X-Linked.
Microcephaly microcornea syndrome Seemanova type
0
*Cataract
*Corneal Diseases
*Eye Abnormalities
*Growth Disorders
*Intellectual Disability
*Microcephaly
*Genetic Diseases, X-Linked.
Mitral valve prolapse, familial, X-
linked
0
*Mitral Valve Prolapse
*Genetic Diseases, X-Linked.
Bruton type agammaglobulinemia
0
*Agammaglobulinemia
*Genetic Diseases, X-Linked.
Spinocerebellar ataxia, X-
linked, 3
0
*Machado-Joseph Disease
*Genetic Diseases, X-Linked.
Properdin deficiency, X-
linked
0
*Genetic Diseases, X-Linked
Properdin/deficiency.
Parkinsonism, early onset with mental retardation
0
*Basal Ganglia Diseases
*Intellectual Disability
*Parkinson Disease
*Genetic Diseases, X-Linked.
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-
linked
0
*Agammaglobulinemia
*Genetic Diseases, X-Linked
Human Growth Hormone/deficiency.
Optic atrophy, X-
linked
0
*Optic Atrophy/congenital
*Genetic Diseases, X-Linked.
Branchial arch syndrome X-
linked
0
*Mandibulofacial Dysostosis
*Microcephaly
*Hearing Loss
*Genetic Diseases, X-Linked
Ear/abnormalities
Neck/abnormalities.
Spastic paraplegia 2, X-
linked
0
*Spastic Paraplegia, Hereditary
*Genetic Diseases, X-Linked.
X-
linked adrenal hypoplasia congenita
0
*Adrenal Hyperplasia, Congenital
*Genetic Diseases, X-Linked.
Wieacker syndrome
0
*Apraxias
*Contracture
*Muscular Atrophy
*Ophthalmoplegia
*Genetic Diseases, X-Linked.
Wells Jankovic syndrome
0
*Adrenoleukodystrophy
*Deafness
*Muscle Spasticity
*Paralysis
*Genetic Diseases, X-Linked.
Sketetal dysplasia coarse facies mental retardation
0
*Intellectual Disability
*Osteochondrodysplasias
*Genetic Diseases, X-Linked.
Spastic paraplegia 16, X-
linked
0
*Spastic Paraplegia, Hereditary
*Genetic Diseases, X-Linked.
Vasquez Hurst Sotos syndrome
0
*Gynecomastia
*Hypogonadism
*Intellectual Disability
*Obesity
*Genetic Diseases, X-Linked.
J Pediatr. 1979;94(1):56-60
VACTERL association with hydrocephaly, X-
linked
0
*Hydrocephalus
*Heart Defects, Congenital
*Limb Deformities, Congenital
*Genetic Diseases, X-Linked
Anal Canal/abnormalities
Esophagus/abnormalities
Kidney/abnormalities
Spine/abnormalities
Trachea/abnormalities.
X-
linked tetra-
amelia
0
*Ectromelia
*Genetic Diseases, X-Linked.
Cleft palate X-
linked
0
*Cleft Palate
*Genetic Diseases, X-Linked.
Neural tube defects X-
linked
0
*Neural Tube Defects
*Genetic Diseases, X-Linked.
Angioma serpiginosum, X-
linked
0
*Skin Diseases, Vascular/congenital
*Genetic Diseases, X-Linked.
Anencephaly and spina bifida X-
linked
0
*Anencephaly
*Spinal Dysraphism
*Genetic Diseases, X-Linked.
Hydrocephalus, X-
linked
0
*Hydrocephalus
*Genetic Diseases, X-Linked
Cerebral Aqueduct/abnormalities.
Congenital alopecia X-
linked
0
*Alopecia
*Genetic Diseases, X-Linked.
Cone dystrophy, x-
linked, with tapetal-
like sheen
0
*Retinitis Pigmentosa
*Genetic Diseases, X-Linked.
Chondrodysplasia punctata, brachytelephalangic
0
*Chondrodysplasia Punctata
*Genetic Diseases, X-Linked.
Split hand foot deformity
0
*Limb Deformities, Congenital
*Genetic Diseases, X-Linked.
Dyggve-
Melchior-
Clausen syndrome
0
*Dwarfism
*Intellectual Disability
*Osteochondrodysplasias/congenital
*Genetic Diseases, X-Linked.
Cardiac valvular dysplasia, X-
linked
0
*Heart Defects, Congenital
*Mitral Valve Prolapse
*Myxoma
*Genetic Diseases, X-Linked.
Cantu syndrome
0
*Cardiomegaly
*Hypertrichosis
*Osteochondrodysplasias
*Genetic Diseases, X-Linked.
Abruzzo Erickson syndrome
0
*Hearing Loss, Conductive
*Limb Deformities, Congenital
*Maxillofacial Abnormalities
*Genetic Diseases, X-Linked.
Congenital idiopathic intestinal pseudoobstruction
0
*Intestinal Pseudo-Obstruction/congenital
*Genetic Diseases, X-Linked.
Ataxia-
deafness syndrome
0
*Cerebellar Ataxia
*Hearing Loss, Bilateral/congenital
*Genetic Diseases, X-Linked.
Arts syndrome
0
*Ataxia
*Genetic Diseases, X-Linked
*Deaf-Blind Disorders.
Arthrogryposis multiplex congenita, distal, X-
linked
0
*Arthrogryposis
*Genetic Diseases, X-Linked.
Cataract, congenital, with microcornea or slight microphthalmia
0
*Cataract/congenital
*Microphthalmos
*Genetic Diseases, X-Linked.
Aarskog syndrome
0
*Dwarfism
*Hand Deformities, Congenital
*Heart Defects, Congenital
*Genetic Diseases, X-Linked
Face/abnormalities
Genitalia, Male/abnormalities.
Radius absent anogenital anomalies
0
*Bone Diseases, Developmental
*Hydrocephalus
*Hypospadias
*Genetic Diseases, X-Linked
Fingers/abnormalities
Radius/abnormalities.
AMELX protein, human
0
*Amelogenin
Amelogenesis Imperfecta
Genetic Diseases, X-Linked.
Mid1 protein, human
0
*Microtubule Proteins
*Nuclear Proteins
*Transcription Factors
Genetic Diseases, X-Linked.
Hum Mol Genet. 1998 Feb;7(2):299-305; Nat Genet 1997 Nov;17(3):285-91